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SMART NT

An Innovative Early Solution for Increased Nuchal Translucency (NT)

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Nuchal Translucency (NT)

NT: small space - big implications.

Nuchal translucency (NT) is the small fluid-filled space at the back of the baby’s neck seen on early ultrasound. A larger-than-expected NT raises the chance of chromosomal, genetic and structural conditions. Congenital heart defects prompts targeted scanning and appropriate testing.

At 10 weeks we use iNT for NT ≥2.5 mm when CRL <45 mm; from 11–14 weeks the standard cut-off is ≥3.5 mm.

All about NT

Your clear guide to increased nuchal translucency (NT) -what it means and what to do. Written for both parents and clinicians: easy to read, clinically robust. Evidence-based, UK-focused, and regularly updated.

SMART NT
New 10-week route: expert scans plus KNOVA NIPT.

Conditions linked with increased NT

While increased NT may resolve in some cases, it is frequently associated with a broad range of serious babie's health conditions.

Down Syndrome
Osteogenesis imperfecta
Turner Syndrome
Noonan syndrome
Cystic hygroma
Edwards syndrome
1p36 deletion syndrome
Spinal muscular atrophy
CHARGE syndrome
Joubert syndrome
Cardio‑facio‑cutaneous syndrome
Patau syndrome
Achondroplasia
Ellis–van Creveld syndrome
Craniosynostosis syndromes
Heart defects
Costello syndrome
Kabuki Syndrome
Thanatophoric Dysplasia
Exomphalos
Fetal Hydrops
Wolf–Hirschhorn syndrome
Lysosomal storage disorders
Diaphragmatic Hernia
Campomelic dysplasia
DiGeorge syndrome
Ellis–van Creveld syndrome
Cornelia de Lange syndrome
Asphyxiating thoracic dystrophy (Jeune)
Williams–Beuren syndrome

Increased NT is not just linked to Down syndrome. It can be associated with many other conditions, which together are more common and often more serious. The SMART NT protocol is design to screen for the majority of them.

SMART NT

We have developed a robust SMART NT protocol that combines the earliest possible diagnosis of abnormal NT with advanced non-invasive genetic testing and high-resolution ultrasound - providing early diagnosis and early reassurance.

Measurement of NT at 10 Weeks

40% of fetuses with early increased NT are affected by major health issues

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Early Anomaly Scan

Expert Scan at around 12-13 weeks is essential to exclude severe physical anomalies

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Early Anomaly Scan

Expert Scan at around 12-13 weeks is essential to exclude severe physical anomalies

Coming Soon
2.5 mm

Is the cut off of abnormal NT at 10 weeks

At 10 weeks (CRL under 45 mm), an NT of 2.5 mm or more is the most commonly used cut-off to define an abnormal increase.

2-3%

Fetuses are estimated to have abnormal NT at 10 weeks

At 10 weeks, abnormally increased NT (>2.5 mm) is uncommon, but when present it is a clinically significant finding.

42%

Is the risk a serious health condition for early high NT.

An increased NT at 10 weeks is often a stronger sign of problems than the same finding later in pregnancy.

50%

An early high NT may appear normal at the 11–14 week.

Early increased NT resolves quickly in half of the cases, but even then about 20% of babies may still have underlying problems.

How it works

Chat with our Genetic Counsellor, receive your at-home DNA kit with a quick cheek swab, send it back, and get your results in under 4 weeks.

NT Risk Assessment Tool

Disclaimer! This tool provides approximate cancer risk estimates based on genetic and ethnic factors. It is for educational purposes only and should not replace professional medical advice. Risk estimates are based on population-level data and may not reflect your individual circumstances. Always consult a healthcare provider or genetic counsellor for personalised risk assessment and screening recommendations.

NT Risk Calculator

How SMART NT works

NT scan and NIPT at 10 weeks; full results by 12 weeks

1

Book 10 Week Scan & NT

If increased NT is found, you can have the SMART Test straight away

1

Book 10 Week Scan & NT

If increased NT is found, you can have the SMART Test straight away

2

Get KNOVA NIPT

Receive genetic results in two weeks

2

Get KNOVA NIPT

Receive genetic results in 2 weeks

Step 01

Ultrasound Scan + NIPT

Step 02

Target Scan after NIPT results

2

Anomaly Scan after Results

Top-to-toe expert fetal examination

NT at 10 weeks

NT Measurement Criteria from 10+0 to 11+2 weeks (CRL 30–44.9 mm)

Midline Section: Full CRL view showing head and trunk in mid-sagittal section. The fetus may be face-up or back-up, as long as all mid-sagittal criteria are met.

Visualise: forehead and echogenic nasal tip, brainstem with typical “Z” shape, 4th ventricle and nuchal region

Skin line must be clearly seen, either separated from or merged with amnion. Spine must be straight.

Magnification: The fetal body should fill >60% of the screen.

Calliper Placement: Callipers should be placed on the inner borders of the nuchal translucency. Measurement must be perpendicular to the skin surface (crossbar orientation).

Frequently
Asked Questions

Why is your site called SMART NT ? Is it really “smart”?

Yes. SMART NT is not just a catchy name, it describes a structured and modern way of managing pregnancies with increased NT. SMART NT refers to an advanced protocol for babies with raised nuchal translucency, based on a special version of the SMART Test® pathway.

SMART Test® (Structural, Chromosomal and Monogenic Anomalies Recognition Two-step Test®) was developed by Dr Fred Ushakov at the London Pregnancy Clinic in the 2020s. It combines a highly detailed early anatomical scan of the fetus with the most advanced forms of NIPT (non-invasive prenatal testing), usually starting from around 10 weeks of pregnancy.

The SMART NT protocol was created to improve and modernise the management of fetuses with increased NT by detecting the problem earlier (10 weeks) and using the best available ultrasound and genetic technologies to screen as thoroughly as possible for structural anomalies, chromosomal conditions, microdeletions and monogenic (single-gene) syndromes.

SMART NT itself is a screening pathway and is completely safe for the baby, as it relies on ultrasound and blood tests only. However, if NIPT or ultrasound findings raise concern, an invasive diagnostic test such as CVS or amniocentesis may still be needed to confirm the result.

What is the purpose of the SMART NT website?

The SMART NT website has been created to explain, in clear language, what an increased nuchal translucency (NT) means and how pregnancies with raised NT can be managed using the most up-to-date ultrasound and genetic tests. NT is one of the best-known terms in fetal medicine and obstetric ultrasound, yet there is surprisingly no single, truly evidence-based resource that clearly describes NT and the wide range of conditions associated with it. This site is our attempt to fill that gap.

The website is, first of all, an information resource for patients and their families – to help them understand NT, modern screening options and the questions they may wish to ask their own healthcare providers. It is not a substitute for personal medical care, diagnosis or counselling.

At the same time, it is also intended as a reference point for professionals who are involved in the care of pregnancies with increased NT, highlighting contemporary pathways that combine high-resolution ultrasound with advanced genomic testing.

Finally, the site aims to support the development of a SMART NT network around the world, promoting education, collaboration and the sharing of best practice in this rapidly evolving field.

How does SMART NT combine advanced ultrasound with NIPT & what extra information does it give me about my baby’s health?

SMART NT brings together two powerful tools – high-resolution early ultrasound and advanced NIPT – in a planned way, so that structural and genetic problems linked to increased NT can be looked for much earlier and in more detail than with standard pathways. Instead of waiting until the traditional 20-week anomaly scan, SMART NT focuses on expert scans at around 10 and 12–13 weeks, with particular attention to the baby’s heart, brain, face, abdomen and skeleton. This allows many serious anomalies that are often associated with raised NT to be suspected or diagnosed several weeks earlier.

At the same time, SMART NT uses extended NIPT panels that do more than just screen for Down, Edwards and Patau syndromes. These tests can also look for selected monogenic (single-gene) syndromes that are known to be linked with increased NT – conditions that standard invasive testing, limited to karyotype or microarray, may completely miss unless exome or whole-genome sequencing is specifically requested.

By combining what we can see on very detailed early scans with what we can detect in the baby’s DNA in your blood, SMART NT provides a much broader picture of your baby’s health, earlier in pregnancy and without any risk of miscarriage. If a concern is found, there is still the option to confirm it with diagnostic tests such as CVS or amniocentesis; if everything looks reassuring, it can give a much stronger level of early reassurance than NT measurement or basic NIPT alone.

Understandably, SMART NT is a screening pathway and cannot exclude all conditions associated with increased NT. Even with very detailed scans and advanced NIPT, some problems may still only become apparent later in pregnancy or after birth.

Even the most advanced genomic diagnostic tests based on invasive sampling (CVS or amniocentesis), including whole-genome sequencing (WGS), cannot detect all conditions associated with increased NT.

Is there any conflict between SMART NT and the usual screening tests, or can they work together?

There is no conflict between the SMART NT pathway and traditional screening approaches – it does not replace them, it enhances them. Parents who follow the SMART NT pathway can still choose to have all standard tests, including combined screening, anomaly scans and invasive diagnostic tests if needed.

SMART NT simply helps to time and target these traditional tests better, and to interpret their results in the context of high-quality early ultrasound and advanced genomic information.

What exactly is the SMART NT protocol, and how is it different from a standard NT scan?

SMART NT is a dedicated pathway for pregnancies with increased nuchal translucency, not just a single scan.

A standard NT scan usually means one ultrasound at 11–14 weeks to measure the fluid at the back of the baby’s neck and, in some units, to do a basic structural check and calculate the combined screening result.

In contrast, SMART NT starts earlier (10 weeks) and combines a highly detailed anatomical scan with the most advanced forms of NIPT (non-invasive prenatal testing) in a planned, stepwise way. The aim is to pick up increased NT sooner, use high-resolution ultrasound to look carefully for structural anomalies (especially heart and brain problems), and pair this with genomic tests that can screen not only for the common trisomies but also for microdeletions and many single-gene syndromes.

SMART NT is therefore a modern, comprehensive screening protocol designed specifically for the “increased NT” scenario, whereas a standard NT scan is typically a one-off measurement used mainly to calculate combined screening.

At what stage of pregnancy is SMART NT done, and how many appointments does it involve?

SMART NT is built around the early pregnancy window, starting from 10+0 weeks. By 10 weeks of pregnancy (around 8 weeks after conception), virtually all major organs have begun to form in the fetus. This point marks the end of the embryonic period and the beginning of the fetal stage. Coincidentally, 10 weeks is also the stage at which NIPT performance becomes robust.

We recommend a first visit at 10 weeks, where you have an advanced high-resolution scan with a detailed NT assessment. If the NT is raised (from the 95th centile for CRL) or clearly abnormal (2.5 mm or more at 10 weeks), blood is taken at the same appointment for advanced NIPT. This means that both the ultrasound assessment and the genetic screening are initiated as early as possible.

A second visit is usually arranged once the NIPT results are back, typically around 12–13 weeks. At this stage, a more detailed early anomaly scan is performed, with particular attention to the baby’s heart and other organs, and the findings from both the scan and the NIPT are reviewed together. If the NIPT result is high chance, and/or the fetus has persistent increased NT or structural anomalies, the options for invasive diagnostic testing (CVS or amniocentesis) are then discussed.

Is SMART NT a clinical care implementation or a research protocol?

SMART NT is a clinical care pathway, not a research trial. It has been developed from many years of experience in fetal medicine, drawing on robust evidence from published studies together with modern advances in ultrasound and genomic testing.

Parents are not “recruited”, randomised or exposed to experimental procedures. Instead, SMART NT organises already validated high-resolution ultrasound and modern genomic tests into a structured, early pathway for pregnancies with increased NT.

Fetal anatomical scans at 10–14 weeks have been validated in multiple large studies around the world, including hundreds of thousands of fetuses. The ability to detect heart anomalies in the first trimester has been confirmed by a major meta-analysis of more than 300,000 fetuses.

Likewise, genomic technology for monogenic NIPT has been validated in multiple research studies, and in some countries (including NHS England) this technology is even used in a diagnostic context under the term NIPD (non-invasive prenatal diagnosis), rather than purely as screening NIPT.

So, while data from SMART NT is strictly audited, for you as a parent it is offered as up-to-date, evidence-based routine clinical care – not as participation in an experimental study.

I am a clinician and would like to implement SMART NT. What can I do?

SMART NT is designed as a practical clinical pathway, so many of its principles can be adapted into your local practice. A good starting point is to review your current management of early increased NT (before 11 weeks) and consider how to integrate three key elements: an expert early anatomical scan (from 10 weeks), a robust and standardised NT protocol at 10 weeks, and access to high-quality, extended NIPT that goes beyond the basic trisomies.

You may wish to audit your unit’s current performance (for example, what is actually checked at the “NT scan”, how often cardiac/structural anomalies are detected early, and which genetic tests are routinely offered) and then use the SMART NT framework to update your pathways. This often means strengthening collaboration between fetal medicine, sonography, clinical genetics and the laboratory, so that ultrasound findings and genomic tests are interpreted together rather than in isolation.

Our longer-term aim is to support a network of centres using SMART NT principles, with shared education, protocols and outcome data. If you are interested in this, the simplest first step is to use the information on this site to refine your local pathway and, where possible, get in touch so we are aware of your interest as future educational resources and collaborations are developed.

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